Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.700 1.000 1 2015 2015
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0264306
Disease: Laryngeal Obstruction
Laryngeal Obstruction 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C1854301
Disease: Motor delay
Motor delay 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0012569
Disease: Diplopia
Diplopia 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C4023458
Disease: Abnormal shape of the frontal region
Abnormal shape of the frontal region 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0431447
Disease: Synophrys
Synophrys 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0